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Jump to: What is Rare Disease Day 2021?28 Feb │ 27 Feb26 Feb25 Feb │ 24 Feb │ 23 Feb │22 Feb │ 21 Feb │ 19 Feb18 Feb17 Feb


 

Sunday 28 February 2021

A Rare Disease Day virtual hug from Luke Rosen, founder of KIF1A.org, a non-profit organisation working to discover treatment for KIF1A Associated Neurological Disorder.

Luke Rosen

 

This morning, Genomics England have released a blog, written by Dr Charles Steward about West syndrome – a rare epilepsy.

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Read the West Syndrome blog on Genomics England

Dr Charles Steward is the Patient Advocacy and Engagement Lead at Congenica. He is also a member of the Participant Panel at Genomics England and the Simons Searchlight Community Advisory Committee, USA.

 

 

 

 

 

 

 

 

 


 

 

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Saturday 27 February 2021

 

 

 

 

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Friday 26 February 2021

Malisa Rust, Associate Director of Patient Engagement at PTC Therapeutics speaks to us about her Alpha-1 Antitrypsin deficiency, her family and the diagnosis journey.

Malisa Rust

 

 

 

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Thursday 25 February 2021

On the run-up to Rare Disease Day, Vivienne Parry, writer and broadcaster, Head of Engagement at Genomics England speaks to us about why "understanding the rare is key to understanding the common".

Vivienne Parry
Find out about Patient Advocacy at Congenica

 

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Wednesday 24 February 2021

Nuala Summerfield, founder of the Schinzel-Giedion Syndrome Foundation talks to us about Schinzel-Giedion Syndrome.

Nuala has a daughter, Ophelia, with a mutation in the SETBP1 gene. Schinzel-Giedion Syndrome is an ultra rare disease with around 100 cases world-wide.

Nuala Summerfield

 

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Artboard 1Tuesday 23 February 2021

This morning, Allison Watson, founder and CEO of the Ring20 Research and Support group UK, talks to us about r(20), a rare form of epilepsy. Allison has a son with r(20) and speaks about the karyotype chromosome tests and the importance of effective r(20) diagnosis.

Allison Watson

 

 

Find out about Patient Advocacy at Congenica

 

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Monday 22 February 2021

With less than one week to go before Rare Disease Day, Patient Advocacy and Engagement Advisory Board Chair, Alastair Kent OBE talks to us about the history of rare disease diagnostics and the gobalization of Rare Disease Day.

Alastair Kent

 

As well as the above video, Alastair Kent has written a blog for us on why diagnosis is so important for rare disease patients.

"Fortunately, in developed health economies, most children are born healthy. But, sadly, sometimes our biology lets us down and we have a child who is born with a life-limiting condition, either as a result of genetics or environmental issues or a combination of those or other factors."

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Read the full blog here.

 

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Sunday 21 February 2021

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Friday 19 February 2021

Jeff D'Angelo, founder of the CHAMP1 Foundation shares with us his thoughts on Rare Disease Day, the community and his son, JJ.

CHAMP1 is an organization created for parents of children with developmental delay, hypotonia, cerebral palsy, autism, and epilepsy as a result of mutations in the CHAMP1 gene.

Jeff DAngelo

Did you know?

Congenica recently launched a Patient Advocacy and Engagement Advisory Board.

Leading advocacy professionals to ensure patient remains central to Congenica’s approach

The role of the Patient Advocacy and Engagement Advisory Board is to be the critical friend of Congenica, ensuring we serve patients to the fullest of our abilities.

The board will inform our product development and communications to make sure they serve patients as best they can.

Board members will also help guide the development of helpful content about genomic medicine and the patient journey. Our goal is to become the go-to, trusted source of information for both patients and clinicians.

Find out about Patient Advocacy at Congenica


 

 

Download our Genomics England case study

 

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Thursday 18 February 2021

Lynsey Chediak, Project Lead at World Economic Forum discussing what rare disease and precision medicine means to her. #RareIsStrong #RareIsProud

Chediak Lynsey

It's great to see that Genomics England's G Word podcast from yesterday is still being well received.



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Wednesday 17 February 2021

We start our build up to Rare Disease Day 2021 today with Charles Steward (PhD) chatting to Chris Wigley on Genomics England's G Word podcast, talking all things genomics.

"I would like genomics to be more spoken about. There's still a concern that genomics is going to be used to get rid of certain types of disorders, but it has an enormous potential to make everyone's lives better. Understanding genomics is a really important thing."

Listen to the latest episode of The G Word podcast below:

 

 

 

 

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What is Rare Disease Day?

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

In the run-up to Rare Disease Day 2021 (28 February 2021), we will be compiling thoughts, news and opinions on the future of rare disease diagnostics right here on this page.

Share this page with your network using the below links to help raise awareness #RAREDISEASEDAY

 

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